MCID: MCP046
MIFTS: 31

Mucopolysaccharidosis, Type Iiid

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Skin diseases, Respiratory diseases, Blood diseases

Aliases & Classifications for Mucopolysaccharidosis, Type Iiid

MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiid:

Name: Mucopolysaccharidosis, Type Iiid 57 40
Mucopolysaccharidosis Type Iiid 57 53 59 75 13
Mps Iiid 57 53 75 55
Mps3d 57 53 59 75
Glucosamine N-Acetyl-6-Sulfatase Deficiency 53 59
N-Acetylglucosamine-6-Sulfatase Deficiency 57 75
Mucopolysaccharidosis Type 3d 53 59
Sanfilippo Syndrome Type D 53 59
Sanfilippo Syndrome D 57 53
Gns Deficiency 53 59
Mpsiiid 53 59
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency 53
N-Acetylglucosamine-6-Sulfatase 13
Mucopoly-Saccharidosis Type 3d 53
Mucopolysaccharidosis 3d 75
Sanfilippo D Syndrome 75
Mps Iii-D 76
Mps Iii D 73
Mps 3d 53

Characteristics:

Orphanet epidemiological data:

59
sanfilippo syndrome type d
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
four clinically indistinguishable biochemically distinct forms (see )


HPO:

32
mucopolysaccharidosis, type iiid:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis, Type Iiid

NIH Rare Diseases : 53 Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzymeN-acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.

MalaCards based summary : Mucopolysaccharidosis, Type Iiid, also known as mucopolysaccharidosis type iiid, is related to mucopolysaccharidosis iii, and has symptoms including diarrhea, seizures and joint stiffness. An important gene associated with Mucopolysaccharidosis, Type Iiid is GNS (Glucosamine (N-Acetyl)-6-Sulfatase). Affiliated tissues include bone and eye, and related phenotypes are low-set ears and short neck

OMIM : 57 The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003). (252940)

UniProtKB/Swiss-Prot : 75 Mucopolysaccharidosis 3D: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

Wikipedia : 76 Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal... more...

Related Diseases for Mucopolysaccharidosis, Type Iiid

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iiid

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss

Neurologic Central Nervous System:
seizures
dysarthria
hyperactivity
mental retardation
sleep disturbances common
more
Head And Neck Face:
coarse facial features
prominent forehead

Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism
thick eyebrows

Head And Neck Eyes:
synophrys
decreased vision
clear corneas

Skeletal:
joint contractures
mild dysotosis multiplex

AbdomenSpleen:
mild splenomegaly

Chest Ribs Sternum Clavicles And Scapulae:
thick ribs

Abdomen Liver:
mild hepatomegaly

Laboratory Abnormalities:
heparan sulfate excretion in urine
metachromasia of white blood cells and fibroblasts
n-acetylglucosamine-6-sulfate sulfatase deficiency

Head And Neck Neck:
short neck

Abdomen Gastrointestinal:
dysphagia
diarrhea
drooling

Head And Neck Nose:
anteverted nares
flat nasal bridge

Head And Neck Mouth:
wide mouth
drooling
thick lips

Skeletal Spine:
ovoid thoracolumbar vertebrae

Growth Height:
normal stature

Cardiovascular Heart:
asymmetric septal hypertrophy

Respiratory Nasopharynx:
frequent upper respiratory tract infections

Skeletal Limbs:
mild joint stiffness

Neurologic Behavioral Psychiatric Manifestations:
severe behavioral problems beginning at 3 to 4 years of age


Clinical features from OMIM:

252940

Human phenotypes related to Mucopolysaccharidosis, Type Iiid:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 short neck 32 HP:0000470
3 frontal bossing 32 HP:0002007
4 intellectual disability 32 HP:0001249
5 seizures 32 HP:0001250
6 dysarthria 32 HP:0001260
7 dysphagia 32 HP:0002015
8 sleep disturbance 32 HP:0002360
9 coarse facial features 32 HP:0000280
10 hearing impairment 32 HP:0000365
11 splenomegaly 32 HP:0001744
12 hepatomegaly 32 HP:0002240
13 depressed nasal bridge 32 HP:0005280
14 joint stiffness 32 HP:0001387
15 anteverted nares 32 HP:0000463
16 thick eyebrow 32 HP:0000574
17 coarse hair 32 HP:0002208
18 flexion contracture 32 HP:0001371
19 dysostosis multiplex 32 HP:0000943
20 prominent forehead 32 HP:0011220
21 thick lower lip vermilion 32 HP:0000179
22 recurrent upper respiratory tract infections 32 HP:0002788
23 absent speech 32 HP:0001344
24 wide mouth 32 HP:0000154
25 diarrhea 32 HP:0002014
26 synophrys 32 HP:0000664
27 hyperactivity 32 HP:0000752
28 drooling 32 HP:0002307
29 hirsutism 32 HP:0001007
30 ovoid thoracolumbar vertebrae 32 HP:0003309
31 thickened ribs 32 HP:0000900
32 asymmetric septal hypertrophy 32 HP:0001670
33 heparan sulfate excretion in urine 32 HP:0002159
34 growth abnormality 32 HP:0001507
35 cellular metachromasia 32 HP:0003653

UMLS symptoms related to Mucopolysaccharidosis, Type Iiid:


diarrhea, seizures, joint stiffness

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iiid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Sanfilippo Disease Terminated NCT02298686

Search NIH Clinical Center for Mucopolysaccharidosis, Type Iiid

Genetic Tests for Mucopolysaccharidosis, Type Iiid

Anatomical Context for Mucopolysaccharidosis, Type Iiid

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiid:

41
Bone, Eye

Publications for Mucopolysaccharidosis, Type Iiid

Articles related to Mucopolysaccharidosis, Type Iiid:

# Title Authors Year
1
Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID. ( 28334745 )
2017
2
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. ( 20232353 )
2010
3
Diagnosis of caprine mucopolysaccharidosis type IIID by real-time polymerase chain reaction-based genotyping. ( 20622237 )
2010
4
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6- sulfatase. ( 12573255 )
2003

Variations for Mucopolysaccharidosis, Type Iiid

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis, Type Iiid:

75
# Symbol AA change Variation ID SNP ID
1 GNS p.Ser94Ile VAR_064070
2 GNS p.Lys340Arg VAR_064072
3 GNS p.Gly418Glu VAR_064073

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiid:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNS NM_002076.3(GNS): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs119461974 GRCh37 Chromosome 12, 65130819: 65130819
2 GNS NM_002076.3(GNS): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs119461974 GRCh38 Chromosome 12, 64737039: 64737039
3 GNS NM_002076.3(GNS): c.1169delA (p.Gln390Argfs) deletion Pathogenic rs483352898 GRCh37 Chromosome 12, 65122767: 65122767
4 GNS NM_002076.3(GNS): c.1169delA (p.Gln390Argfs) deletion Pathogenic rs483352898 GRCh38 Chromosome 12, 64728987: 64728987
5 GNS NM_002076.3(GNS): c.1168C> T (p.Gln390Ter) single nucleotide variant Pathogenic rs119461975 GRCh37 Chromosome 12, 65122768: 65122768
6 GNS NM_002076.3(GNS): c.1168C> T (p.Gln390Ter) single nucleotide variant Pathogenic rs119461975 GRCh38 Chromosome 12, 64728988: 64728988
7 GNS NM_002076.3(GNS): c.1138_1139insGTCCT (p.Asp380Glyfs) insertion Pathogenic rs483352899 GRCh37 Chromosome 12, 65122797: 65122798
8 GNS NM_002076.3(GNS): c.1138_1139insGTCCT (p.Asp380Glyfs) insertion Pathogenic rs483352899 GRCh38 Chromosome 12, 64729017: 64729018
9 GNS NM_002076.3(GNS): c.1226_1227insG (p.Ser410Ilefs) insertion Pathogenic rs483352900 GRCh37 Chromosome 12, 65116868: 65116868
10 GNS NM_002076.3(GNS): c.1226_1227insG (p.Ser410Ilefs) insertion Pathogenic rs483352900 GRCh38 Chromosome 12, 64723088: 64723088
11 GNS NM_002076.3(GNS): c.1598G> A (p.Arg533His) single nucleotide variant Benign rs61743822 GRCh37 Chromosome 12, 65110582: 65110582
12 GNS NM_002076.3(GNS): c.1598G> A (p.Arg533His) single nucleotide variant Benign rs61743822 GRCh38 Chromosome 12, 64716802: 64716802
13 GNS NM_002076.3(GNS): c.253-10delT deletion Benign/Likely benign rs201654719 GRCh37 Chromosome 12, 65141708: 65141708
14 GNS NM_002076.3(GNS): c.253-10delT deletion Benign/Likely benign rs201654719 GRCh38 Chromosome 12, 64747928: 64747928

Expression for Mucopolysaccharidosis, Type Iiid

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Iiid.

Pathways for Mucopolysaccharidosis, Type Iiid

GO Terms for Mucopolysaccharidosis, Type Iiid

Sources for Mucopolysaccharidosis, Type Iiid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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